Associated Papers
Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.
Sergi CM
Genes, 2025
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure.
Hirono K et al.
Journal of Clinical Medicine, 2020
Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.
Vershinina T et al.
Cardiology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy.
Hirono K et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2018
Barth Syndrome: Different Approaches to Diagnosis.
Imai-Okazaki A et al.
The Journal of Pediatrics, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.
Debnath S et al.
Interdisciplinary Sciences, Computational Life Sciences, 2015
Cardiomyopathy in a male patient with neutropenia and growth delay.
Folsi V et al.
Italian Journal of Pediatrics, 2014
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
Karkucinska-Wieckowska A et al.
Journal of Inherited Metabolic Disease, 2013
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.
Takeda A et al.
European Journal of Pediatrics, 2011
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
Bissler JJ et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002